MTCH1

Summary

MTCH1 (mitochondrial carrier 1, HGNC:17586) is a protein-coding gene on chromosome 6p21.2, encoding Mitochondrial carrier homolog 1 (Q9NZJ7). Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane.

This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed.

Source: NCBI Gene 23787 — RefSeq curated summary.

At a glance

• Gene–disease (curated): metachromatic leukodystrophy due to saposin B deficiency (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 1,067 total — 42 pathogenic, 48 likely-pathogenic
• MANE Select transcript: NM_001271641

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17586
Approved symbol	MTCH1
Name	mitochondrial carrier 1
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Aliases	CGI-64, PSAP, SLC25A49
Ensembl gene	ENSG00000137409
Ensembl biotype	protein_coding
OMIM	610449
Entrez	23787

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 15 protein_coding, 14 nonsense_mediated_decay, 13 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000373616, ENST00000373627, ENST00000418541, ENST00000460219, ENST00000471737, ENST00000492754, ENST00000695042, ENST00000695043, ENST00000695044, ENST00000695045, ENST00000695046, ENST00000695047, ENST00000695048, ENST00000695049, ENST00000695050, ENST00000695051, ENST00000695052, ENST00000695053, ENST00000695054, ENST00000695055, ENST00000695056, ENST00000695057, ENST00000695058, ENST00000695059, ENST00000695060, ENST00000695061, ENST00000695062, ENST00000695063, ENST00000695064, ENST00000695065, ENST00000695066, ENST00000695067, ENST00000695068, ENST00000695069, ENST00000695070, ENST00000695071, ENST00000695072, ENST00000695073, ENST00000695074, ENST00000695075, ENST00000695076, ENST00000695077, ENST00000971155, ENST00000971156

RefSeq mRNA: 4 — MANE Select: NM_001271641 NM_001271641, NM_001410897, NM_001410899, NM_014341

CCDS: CCDS4828, CCDS64411, CCDS93905, CCDS93906

Canonical transcript exons

ENST00000373627 — 12 exons

Exon	Start	End
ENSE00001833938	36968141	36968974
ENSE00002440518	36981588	36981672
ENSE00002495354	36978078	36978155
ENSE00002504224	36977634	36977691
ENSE00003252267	36970647	36970694
ENSE00003308671	36975658	36975717
ENSE00003348307	36972652	36972796
ENSE00003495778	36977199	36977250
ENSE00003545344	36970039	36970114
ENSE00003604553	36970406	36970473
ENSE00003733660	36978505	36978611
ENSE00003913315	36985853	36986196

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.4993 / max 417.3854, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73411	75.1050	1825
73408	0.3943	216

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.77	gold quality
middle temporal gyrus	UBERON:0002771	99.75	gold quality
pancreatic ductal cell	CL:0002079	99.67	gold quality
inferior olivary complex	UBERON:0002127	99.67	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.65	gold quality
entorhinal cortex	UBERON:0002728	99.60	gold quality
corpus epididymis	UBERON:0004359	99.56	gold quality
choroid plexus epithelium	UBERON:0003911	99.55	gold quality
superior frontal gyrus	UBERON:0002661	99.52	gold quality
left lobe of thyroid gland	UBERON:0001120	99.50	gold quality
thyroid gland	UBERON:0002046	99.48	gold quality
caput epididymis	UBERON:0004358	99.48	gold quality
parotid gland	UBERON:0001831	99.47	gold quality
postcentral gyrus	UBERON:0002581	99.47	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.47	gold quality
right lobe of thyroid gland	UBERON:0001119	99.46	gold quality
parietal lobe	UBERON:0001872	99.46	gold quality
CA1 field of hippocampus	UBERON:0003881	99.46	gold quality
superior vestibular nucleus	UBERON:0007227	99.44	gold quality
orbitofrontal cortex	UBERON:0004167	99.42	gold quality
adenohypophysis	UBERON:0002196	99.41	gold quality
pituitary gland	UBERON:0000007	99.39	gold quality
medulla oblongata	UBERON:0001896	99.36	gold quality
pons	UBERON:0000988	99.35	gold quality
cervix squamous epithelium	UBERON:0006922	99.35	gold quality
prefrontal cortex	UBERON:0000451	99.31	gold quality
frontal cortex	UBERON:0001870	99.30	gold quality
seminal vesicle	UBERON:0000998	99.28	gold quality
right frontal lobe	UBERON:0002810	99.27	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	32.82
E-MTAB-7303	no	361.24
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting MTCH1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-3074-3P	97.83	67.26	922
HSA-MIR-3152-5P	96.98	66.88	819
HSA-MIR-6861-5P	96.23	67.19	800
HSA-MIR-6068	92.95	63.01	67
HSA-MIR-381-5P	91.91	65.03	65

Literature-anchored findings (GeneRIF, showing 12)

• mitochondrial localization and proapoptotic activity of PSAP suggest that it is an important regulator of apoptosis (PMID:12377771)
• PSAP has two proapoptotic isoforms generated by alternative splicing, and both proteins are imported into the mitochondrial outer membrane using multiple internal targeting signals, and both contain two proapoptotic domains. (PMID:17670888)
• Data show that all PSAP splicing isoforms are localized in the mitochondria and are pro-apoptotic. (PMID:18291114)
• Data suggest that the transmembrane domain of Bcl-XL could be involved in protein oligomerization, shown here with presenilin-1 associated protein. (PMID:21856303)
• Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients (PMID:22277967)
• Data indicate that the formation of cytochrome c-Apaf-1 apoptosome and the presence of Smac are absolutely required for PSAP-induced apoptosis. (PMID:23207240)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• Mtch1 antibody positive neuro-Bechet’s disease patients had more attacks, increased disability and lower serum nucleosome levels. (PMID:24035008)
• Results indicate that EGR-1 is a transcriptional regulator of MTCH1 and give some clues about the cellular processes in which MTCH1 might participate. (PMID:26692143)
• Upregulation Mitochondrial Carrier 1 (MTCH1) Is Associated with Cell Proliferation, Invasion, and Migration of Liver Hepatocellular Carcinoma. (PMID:34195286)
• Mitochondrial carrier 1 (MTCH1) governs ferroptosis by triggering the FoxO1-GPX4 axis-mediated retrograde signaling in cervical cancer cells. (PMID:37550282)
• Identification of MTCH1 as a novel prognostic indicator and therapeutic target in hepatocellular carcinoma. (PMID:38820930)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mtch1	ENSMUSG00000024012
rattus_norvegicus	Mtch1	ENSRNOG00000000527
drosophila_melanogaster	Mtch	FBGN0027786
drosophila_melanogaster	CG10920	FBGN0029963
caenorhabditis_elegans		WBGENE00018395
caenorhabditis_elegans		WBGENE00018397

Paralogs (1): MTCH2 (ENSG00000109919)

Protein

Protein identifiers

Mitochondrial carrier homolog 1 — Q9NZJ7 (reviewed: Q9NZJ7)

Alternative names: Presenilin-associated protein

All UniProt accessions (20): Q9NZJ7, A0A8Q3SHJ3, A0A8Q3SHJ6, A0A8Q3SHK9, A0A8Q3SHP2, A0A8Q3SHP5, A0A8Q3SHP9, A0A8Q3SHR5, A0A8Q3WKA3, A0A8Q3WKA4, A0A8Q3WKA5, A0A8Q3WKC1, A0A8Q3WKC8, A0A8Q3WKF6, A0A8Q3WKU8, A0A8Q3WLF0, A0A8Q3WLQ4, A0A8Q3WLQ9, H0Y8C3, H7C196

UniProt curated annotations — full annotation on UniProt →

Function. Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane. Catalyzes insertion of proteins with alpha-helical transmembrane regions, such as signal-anchored, tail-anchored and multi-pass membrane proteins. Does not mediate insertion of beta-barrel transmembrane proteins. May play a role in apoptosis.

Subunit / interactions. Interacts with PSEN1. Interacts with MUL1/MAPL.

Subcellular location. Mitochondrion outer membrane.

Tissue specificity. Widely expressed with a predominant expression in brain.

Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NZJ7-1	1	yes
Q9NZJ7-2	2
Q9NZJ7-3	3

RefSeq proteins (4): NP_001258570, NP_001397826, NP_001397828, NP_055156 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily

Pfam: PF00153

UniProt features (20 total): topological domain 6, transmembrane region 6, repeat 2, splice variant 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZJ7-F1	76.29	0.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 808 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_LYSOSOMAL_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_NEURON_MATURATION, GOBP_GROWTH, HSIAO_HOUSEKEEPING_GENES, GOBP_VACUOLAR_TRANSPORT, KEGG_LYSOSOME, GOBP_NEUROGENESIS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE

GO Biological Process (5): apoptotic process (GO:0006915), regulation of signal transduction (GO:0009966), positive regulation of apoptotic process (GO:0043065), protein insertion into mitochondrial outer membrane (GO:0045040), neuronal ion channel clustering (GO:0045161)

GO Molecular Function (2): membrane insertase activity (GO:0032977), protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
signal transduction	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
outer mitochondrial membrane organization	1
protein insertion into mitochondrial membrane	1
neuron maturation	1
membrane organization	1
establishment of protein localization to membrane	1
protein carrier activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTCH1	SLC25A17	O43808	888
MTCH1	F6RGN5	F6RGN5	872
MTCH1	SLC25A10	Q9UBX3	872
MTCH1	PSEN1	P49768	844
MTCH1	SLC25A3	Q00325	824
MTCH1	SLC25A33	Q9BSK2	822
MTCH1	SLC25A16	P16260	781
MTCH1	SLC25A32	Q9H2D1	772
MTCH1	SLC25A28	Q96A46	768
MTCH1	SLC25A11	Q02978	750
MTCH1	SLC25A15	Q9Y619	742
MTCH1	SLC25A26	Q70HW3	725
MTCH1	SLC25A5	P05141	717
MTCH1	SLC25A24	Q6NUK1	710
MTCH1	SLC25A12	O75746	702

IntAct

61 interactions, top by confidence:

A	B	Type	Score
	NUP98	psi-mi:“MI:0914”(association)	0.910
nef	ACOT8	psi-mi:“MI:0914”(association)	0.710
TIMMDC1	NDUFS8	psi-mi:“MI:0914”(association)	0.530
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
SYP	APBB1	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
TSPAN2	TSPAN3	psi-mi:“MI:0914”(association)	0.530
SMAD2	FAM83G	psi-mi:“MI:0915”(physical association)	0.400
MTCH1	PSEN1	psi-mi:“MI:0915”(physical association)	0.400
MTCH1	APLNR	psi-mi:“MI:0915”(physical association)	0.370
GSK3A	MTCH1	psi-mi:“MI:0915”(physical association)	0.370
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
HIF1AN	CNOT1	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
NMES1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
RAC1		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
EDEM1	CANX	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
LRRC55	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
TACSTD2	RIMOC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (265): MTCH1 (Affinity Capture-MS), MTCH1 (Affinity Capture-MS), MTCH1 (Affinity Capture-MS), MTCH1 (Affinity Capture-MS), MTCH1 (Affinity Capture-MS), ATP1A1 (Co-fractionation), ATP5D (Co-fractionation), ATP6V0D1 (Co-fractionation), MTCH1 (Co-fractionation), MTCH1 (Co-fractionation), MTCH1 (Co-fractionation), MTCH1 (Co-fractionation), MTCH1 (Co-fractionation), MTCH1 (Co-fractionation), MTCH1 (Co-fractionation)

ESM2 similar proteins: A2AF53, A4FV75, A4QNE0, A5A6S6, A6QL84, A6ZIQ8, D3ZEH5, E1BD52, O57425, O60337, P56589, P58749, Q0P5I8, Q0VC58, Q2TBU2, Q2V4F9, Q3T0J1, Q3TMP8, Q4R5B4, Q4R7G8, Q5JZQ8, Q5M8Y1, Q5R8H8, Q5REE3, Q5RF53, Q5XIK2, Q5ZK43, Q6GLK9, Q6IC98, Q6NRL4, Q6ZQ89, Q7L5D6, Q7SYC7, Q80YV4, Q8CIF6, Q8NBJ9, Q8NFB2, Q8VCM5, Q8VIJ8, Q93ZQ5

Diamond homologs: B0DK57, B0G159, Q54FU9, Q54MZ4, Q5R5M0, Q5RFB7, Q791T5, Q791V5, Q8BZ09, Q9M038, Q9N285, Q9NZJ7, Q9Y6C9, Q9BQT8, Q8RWA5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MTCH1	up-regulates	Apoptosis

Disease & clinical

Clinical variants and AI predictions

ClinVar

1067 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	42
Likely pathogenic	48
Uncertain significance	332
Likely benign	472
Benign	49

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070932	NM_002778.4(PSAP):c.1120del (p.Glu374fs)	Pathogenic
1300259	NM_002778.4(PSAP):c.209T>G (p.Val70Gly)	Pathogenic
13364	NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe)	Pathogenic
13365	NM_002778.4(PSAP):c.1A>T (p.Met1Leu)	Pathogenic
13366	NM_002778.4(PSAP):c.577-1G>T	Pathogenic
13368	NM_002778.4(PSAP):c.794del (p.Cys265fs)	Pathogenic
13370	NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly)	Pathogenic
13371	NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter)	Pathogenic
13374	NM_002778.4(PSAP):c.577-2A>G	Pathogenic
1366889	NC_000010.10:g.(?73587761)(73588844_?)del	Pathogenic
1382238	NM_002778.4(PSAP):c.83del (p.Gly28fs)	Pathogenic
1399943	NM_002778.4(PSAP):c.299_315del (p.Pro100fs)	Pathogenic
1412783	NC_000010.10:g.(?73610929)(73610988_?)del	Pathogenic
1438752	NM_002778.4(PSAP):c.670G>T (p.Glu224Ter)	Pathogenic
1455040	NM_002778.4(PSAP):c.889G>T (p.Glu297Ter)	Pathogenic
1455762	NM_002778.4(PSAP):c.1204C>T (p.Gln402Ter)	Pathogenic
1676842	NM_002778.4(PSAP):c.721T>G (p.Cys241Gly)	Pathogenic
1989545	NM_002778.4(PSAP):c.1050dup (p.Lys351fs)	Pathogenic
1993070	NM_002778.4(PSAP):c.527dup (p.Leu177fs)	Pathogenic
2005872	NM_002778.4(PSAP):c.1340dup (p.Tyr447Ter)	Pathogenic
2007832	NM_002778.4(PSAP):c.555_556dup (p.Arg186fs)	Pathogenic
2026090	NM_002778.4(PSAP):c.457C>T (p.Gln153Ter)	Pathogenic
2122068	NM_002778.4(PSAP):c.723_726del (p.Ile240_Cys241insTer)	Pathogenic
2126174	NM_002778.4(PSAP):c.100del (p.Gln34fs)	Pathogenic
2424541	NC_000010.10:g.(?73578585)(73581640_?)del	Pathogenic
2582396	NM_002778.4(PSAP):c.1192+1G>A	Pathogenic
2694009	NM_002778.4(PSAP):c.785_788del (p.Lys262fs)	Pathogenic
2709568	NM_002778.4(PSAP):c.202del (p.Asp68fs)	Pathogenic
2735420	NM_002778.4(PSAP):c.148C>T (p.Gln50Ter)	Pathogenic
2763225	NM_002778.4(PSAP):c.1402del (p.Glu468fs)	Pathogenic

SpliceAI

4797 predictions. Top by Δscore:

Variant	Effect	Δscore
10:71819110:CA:C	acceptor_gain	1.0000
10:71819112:C:CC	acceptor_gain	1.0000
10:71819460:CGTA:C	donor_loss	1.0000
10:71819461:GTA:G	donor_loss	1.0000
10:71819462:TACC:T	donor_loss	1.0000
10:71819463:A:C	donor_loss	1.0000
10:71819464:C:CA	donor_loss	1.0000
10:71819464:CCTG:C	donor_gain	1.0000
10:71819618:GTGAA:G	acceptor_gain	1.0000
10:71819619:TGAA:T	acceptor_gain	1.0000
10:71819622:ACTA:A	acceptor_loss	1.0000
10:71819623:C:CC	acceptor_gain	1.0000
10:71819624:T:G	acceptor_loss	1.0000
10:71819627:A:C	acceptor_gain	1.0000
10:71819708:GCTCA:G	donor_loss	1.0000
10:71819709:CTCAC:C	donor_loss	1.0000
10:71819710:TCACC:T	donor_loss	1.0000
10:71819711:CACC:C	donor_loss	1.0000
10:71819712:A:AC	donor_gain	1.0000
10:71819713:C:CC	donor_gain	1.0000
10:71819713:C:CG	donor_loss	1.0000
10:71819713:CCGGT:C	donor_gain	1.0000
10:71819782:T:TA	donor_gain	1.0000
10:71819897:CTTT:C	acceptor_gain	1.0000
10:71819898:TTT:T	acceptor_gain	1.0000
10:71819899:TT:T	acceptor_gain	1.0000
10:71819900:TCT:T	acceptor_loss	1.0000
10:71819901:C:CC	acceptor_gain	1.0000
10:71819907:C:CT	acceptor_gain	1.0000
10:71820236:ATACC:A	donor_loss	1.0000

AlphaMissense

2505 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:36968958:C:A	G372V	1.000
6:36968958:C:T	G372D	1.000
6:36968959:C:A	G372C	1.000
6:36968959:C:G	G372R	1.000
6:36968959:C:T	G372S	1.000
6:36970060:G:C	C359W	1.000
6:36970071:A:G	W356R	1.000
6:36970071:A:T	W356R	1.000
6:36970104:C:A	G345W	1.000
6:36970448:G:A	P327L	1.000
6:36970469:G:T	A320E	1.000
6:36970649:C:G	G318R	1.000
6:36970649:C:T	G318R	1.000
6:36970656:G:C	F315L	1.000
6:36970656:G:T	F315L	1.000
6:36970658:A:G	F315L	1.000
6:36972753:C:G	G269R	1.000
6:36972756:A:G	W268R	1.000
6:36972756:A:T	W268R	1.000
6:36972773:C:T	G262D	1.000
6:36972785:G:T	P258H	1.000
6:36972794:C:T	G255E	1.000
6:36972795:C:G	G255R	1.000
6:36972795:C:T	G255R	1.000
6:36977222:A:C	F226L	1.000
6:36977222:A:T	F226L	1.000
6:36977223:A:C	F226C	1.000
6:36977223:A:G	F226S	1.000
6:36977224:A:G	F226L	1.000
6:36977239:G:T	R221S	1.000

dbSNP variants (sampled 300 via entrez): RS1000075563 (6:36986532 G>A,T), RS1000163505 (6:36987853 A>G,T), RS1000386598 (6:36987624 A>G), RS1000950199 (6:36969876 A>G), RS1001007481 (6:36975277 T>G), RS1001099003 (6:36975509 G>A,T), RS1001236570 (6:36986132 G>C,T), RS1001329676 (6:36984642 A>C), RS1002123712 (6:36975021 A>G), RS1002222066 (6:36988331 T>G), RS1002284842 (6:36984224 T>C), RS1002322950 (6:36969122 G>A,T), RS1002414561 (6:36980255 G>A,T), RS1002625932 (6:36974113 TATAA>T), RS1002778458 (6:36979122 C>T)

Disease associations

OMIM: gene MIM:610449 | disease phenotypes: MIM:249900, MIM:611721, MIM:619491, MIM:611722, MIM:610539, MIM:245200, MIM:168600

GenCC curated gene-disease

Disease	Classification	Inheritance
Krabbe disease due to saposin A deficiency	Definitive	Autosomal recessive
metachromatic leukodystrophy due to saposin B deficiency	Strong	Autosomal recessive
Gaucher disease due to saposin C deficiency	Strong	Autosomal recessive
combined PSAP deficiency	Strong	Autosomal recessive
Parkinson disease 24, autosomal dominant, susceptibility to	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (4)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
metachromatic leukodystrophy due to saposin B deficiency	Definitive	AR
Krabbe disease due to saposin A deficiency	Moderate	AR
Gaucher disease due to saposin C deficiency	Definitive	AR
combined PSAP deficiency	Definitive	AR

Mondo (9): metachromatic leukodystrophy due to saposin B deficiency (MONDO:0009590), metachromatic leukodystrophy (MONDO:0018868), combined PSAP deficiency (MONDO:0012719), Parkinson disease 24, autosomal dominant, susceptibility to (MONDO:0859183), Krabbe disease due to saposin A deficiency (MONDO:0012720), Gaucher disease due to saposin C deficiency (MONDO:0012517), Krabbe disease (MONDO:0009499), neuromuscular disease (MONDO:0019056), late-onset Parkinson disease (MONDO:0008199)

Orphanet (7): Metachromatic leukodystrophy (Orphanet:512), Encephalopathy due to prosaposin deficiency (Orphanet:139406), Krabbe disease (Orphanet:487), Atypical Gaucher disease due to saposin C deficiency (Orphanet:309252), Gaucher disease (Orphanet:355), Neuromuscular disease (Orphanet:68381), Hereditary late-onset Parkinson disease (Orphanet:411602)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002088_8	Asthma (childhood onset)	8.000000e-08
GCST002481_11	Acne (severe)	2.000000e-06
GCST004735_16	Epstein-Barr virus copy number in lymphoblastoid cell lines	3.000000e-06
GCST007102_18	Seasonality and depression	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006876	seasonality measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D007965	Leukodystrophy, Globoid Cell	C10.228.140.163.100.362.500; C10.228.140.163.100.435.825.590; C10.228.140.695.625.500; C10.314.400.500; C16.320.565.189.362.500; C16.320.565.189.435.825.590; C16.320.565.398.641.803.585; C16.320.565.595.554.825.590; C18.452.132.100.362.500; C18.452.132.100.435.825.590; C18.452.584.563.641.803.585; C18.452.648.189.362.500; C18.452.648.189.435.825.590; C18.452.648.398.641.803.585; C18.452.648.595.554.825.590
D007966	Leukodystrophy, Metachromatic	C10.228.140.163.100.362.550; C10.228.140.163.100.435.825.850.500; C10.228.140.695.625.550; C10.314.400.550; C16.320.565.189.362.550; C16.320.565.189.435.825.850.500; C16.320.565.398.641.803.925.500; C16.320.565.595.554.825.850.500; C18.452.132.100.362.550; C18.452.132.100.435.825.850.500; C18.452.584.563.641.803.925.500; C18.452.648.189.362.550; C18.452.648.189.435.825.850.500; C18.452.648.398.641.803.925.500; C18.452.648.595.554.825.850.500
D009468	Neuromuscular Diseases	C10.668
C567125	Combined Saposin Deficiency (supp.)
C566435	Gaucher Disease, Atypical, Due To Saposin C Deficiency (supp.)
C567097	Krabbe Disease, Atypical, due to Saposin A Deficiency (supp.)
C562609	Metachromatic Leukodystrophy due to Saposin B Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Miscellaneous SLC25 mitochondrial transporters

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
corosolic acid	decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	increases expression	1
Estradiol	decreases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Fenretinide	affects expression	1
Uranium Compounds	decreases expression	1
Sodium Selenite	increases expression	1
Particulate Matter	increases abundance, decreases expression	1

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1XS	Abcam HeLa MTCH1 KO	Cancer cell line	Female
CVCL_D4CF	HCT116-MTCH1-KO-c4	Cancer cell line	Male
CVCL_D4CG	HCT116-MTCH1-KO-c7	Cancer cell line	Male
CVCL_SZ11	HAP1 MTCH1 (-) 1	Cancer cell line	Male
CVCL_SZ12	HAP1 MTCH1 (-) 2	Cancer cell line	Male
CVCL_SZ13	HAP1 MTCH1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

243 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00331656	PHASE4	UNKNOWN	Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552	PHASE4	UNKNOWN	Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT04283227	PHASE3	ACTIVE_NOT_RECRUITING	OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227	PHASE3	COMPLETED	The Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108	PHASE3	COMPLETED	The Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096	PHASE3	COMPLETED	A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814	PHASE3	TERMINATED	Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320	PHASE3	COMPLETED	Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855	PHASE3	ACTIVE_NOT_RECRUITING	Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT01303146	PHASE2	COMPLETED	Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT03392987	PHASE2	COMPLETED	A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)
NCT03771898	PHASE2	ACTIVE_NOT_RECRUITING	A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy
NCT00668564	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
NCT01074359	PHASE2	TERMINATED	Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149	PHASE2	COMPLETED	Patient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072	PHASE2	TERMINATED	Evaluation of Vital Capacity
NCT03127514	PHASE2	COMPLETED	AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528	PHASE2	COMPLETED	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06339580	PHASE2	RECRUITING	Assessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease
NCT07071935	PHASE2	NOT_YET_RECRUITING	A Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS)
NCT07287189	PHASE2	RECRUITING	Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00418561	PHASE1	COMPLETED	Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT00252252	PHASE1	COMPLETED	AutoVPAP Versus VPAP; Assessment of Sleep and Ventilation
NCT01560741	PHASE1	UNKNOWN	Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation
NCT01621984	PHASE1	COMPLETED	Therapeutic Riding and Neuromuscular Disease
NCT01758510	PHASE1	COMPLETED	Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
NCT03440034	PHASE1	COMPLETED	Study of Pioglitazone in Sporadic Inclusion Body Myositis