MRPL44

Summary

MRPL44 (mitochondrial ribosomal protein L44, HGNC:16650) is a protein-coding gene on chromosome 2q36.1, encoding Large ribosomal subunit protein mL44 (Q9H9J2). Component of the 39S subunit of mitochondrial ribosome. It is a selective cancer dependency (DepMap: 30.8% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein.

Source: NCBI Gene 65080 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 153 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 9
• Cancer dependency (DepMap): dependent in 30.8% of screened cell lines
• MANE Select transcript: NM_022915

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16650
Approved symbol	MRPL44
Name	mitochondrial ribosomal protein L44
Location	2q36.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12701, FLJ13990, mL44
Ensembl gene	ENSG00000135900
Ensembl biotype	protein_coding
OMIM	611849
Entrez	65080

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000258383, ENST00000925223

RefSeq mRNA: 1 — MANE Select: NM_022915 NM_022915

CCDS: CCDS2459

Canonical transcript exons

ENST00000258383 — 4 exons

Exon	Start	End
ENSE00000545748	223959534	223960002
ENSE00000786362	223963756	223963934
ENSE00000843719	223957463	223957651
ENSE00000843720	223966863	223967714

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 94.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.2313 / max 325.3243, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25656	52.1869	1822
25655	1.7304	1108
25657	0.3005	73
25658	0.0134	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.92	gold quality
cortical plate	UBERON:0005343	92.35	gold quality
buccal mucosa cell	CL:0002336	92.32	silver quality
right adrenal gland	UBERON:0001233	91.44	gold quality
right adrenal gland cortex	UBERON:0035827	91.43	gold quality
mucosa of transverse colon	UBERON:0004991	91.26	gold quality
gastrocnemius	UBERON:0001388	90.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.91	gold quality
muscle of leg	UBERON:0001383	90.54	gold quality
ganglionic eminence	UBERON:0004023	90.05	gold quality
left adrenal gland	UBERON:0001234	89.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.71	gold quality
monocyte	CL:0000576	89.57	gold quality
heart left ventricle	UBERON:0002084	89.32	gold quality
leukocyte	CL:0000738	89.26	gold quality
secondary oocyte	CL:0000655	89.22	gold quality
mononuclear cell	CL:0000842	89.21	gold quality
left adrenal gland cortex	UBERON:0035825	89.08	gold quality
rectum	UBERON:0001052	89.01	gold quality
cardiac ventricle	UBERON:0002082	88.95	gold quality
right lobe of liver	UBERON:0001114	88.92	gold quality
adrenal gland	UBERON:0002369	88.77	gold quality
adrenal tissue	UBERON:0018303	88.32	gold quality
adrenal cortex	UBERON:0001235	87.84	gold quality
right atrium auricular region	UBERON:0006631	87.55	gold quality
granulocyte	CL:0000094	86.92	gold quality
apex of heart	UBERON:0002098	86.62	gold quality
heart	UBERON:0000948	86.52	gold quality
gall bladder	UBERON:0002110	86.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	16.98
E-ANND-3	yes	4.26
E-ENAD-20	no	268.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting MRPL44, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-513C-5P	99.50	68.42	1730

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 30.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Decreased MRPL44 affected assembly of the large ribosomal subunit and stability of 16S rRNA leading to complex IV deficiency. (PMID:23315540)
• MRPL44 expression may be a representative marker of metabolic phenotype according to OxPhos amount and a useful predictor of lymph node metastasis in Papillary thyroid carcinoma. (PMID:25590838)
• Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. (PMID:34140213)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrpl44	ENSDARG00000094277
mus_musculus	Mrpl44	ENSMUSG00000026248
rattus_norvegicus	Mrpl44	ENSRNOG00000015231
drosophila_melanogaster	mRpL44	FBGN0037330
caenorhabditis_elegans		WBGENE00008514

Protein

Protein identifiers

Large ribosomal subunit protein mL44 — Q9H9J2 (reviewed: Q9H9J2)

Alternative names: 39S ribosomal protein L44, mitochondrial

All UniProt accessions (1): Q9H9J2

UniProt curated annotations — full annotation on UniProt →

Function. Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.

Subunit / interactions. Homodimer and homomultimer. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

Subcellular location. Mitochondrion. Mitochondrion matrix.

Disease relevance. Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395] An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the ribonuclease III family. Mitochondrion-specific ribosomal protein mL44 subfamily.

RefSeq proteins (1): NP_075066* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014720	dsRBD_dom	Domain
IPR036389	RNase_III_sf	Homologous_superfamily
IPR044444	Ribosomal_mL44_DSRM_metazoa	Domain
IPR055189	RM44_endonuclase	Domain

Pfam: PF22892, PF22935

UniProt features (29 total): helix 15, strand 8, sequence variant 2, transit peptide 1, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

85 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7OF0	ELECTRON MICROSCOPY	2.2
7QI4	ELECTRON MICROSCOPY	2.21
8RRI	ELECTRON MICROSCOPY	2.4
8QU5	ELECTRON MICROSCOPY	2.42
9OLF	ELECTRON MICROSCOPY	2.46
7OF7	ELECTRON MICROSCOPY	2.5
7PO4	ELECTRON MICROSCOPY	2.56
6ZM6	ELECTRON MICROSCOPY	2.59
7O9M	ELECTRON MICROSCOPY	2.6
7OF6	ELECTRON MICROSCOPY	2.6
9CN3	ELECTRON MICROSCOPY	2.62
7QI5	ELECTRON MICROSCOPY	2.63
7OF2	ELECTRON MICROSCOPY	2.7
7OF3	ELECTRON MICROSCOPY	2.7
7OF4	ELECTRON MICROSCOPY	2.7
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7QH7	ELECTRON MICROSCOPY	2.89
7ODR	ELECTRON MICROSCOPY	2.9
7OF5	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
8OIT	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
9PSM	ELECTRON MICROSCOPY	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H9J2-F1	88.36	0.81

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-9937383	Mitochondrial ribosome-associated quality control
R-HSA-392499	Metabolism of proteins
R-HSA-5368287	Mitochondrial translation
R-HSA-72766	Translation

MSigDB gene sets: 210 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_RNA_ENDONUCLEASE_ACTIVITY, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_TRANSLATIONAL_ELONGATION, ACEVEDO_LIVER_CANCER_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME

GO Biological Process (3): RNA processing (GO:0006396), mitochondrial translation (GO:0032543), mitochondrial translational elongation (GO:0070125)

GO Molecular Function (7): RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), endonuclease activity (GO:0004519), hydrolase activity (GO:0016787), nuclease activity (GO:0004518), ribonuclease III activity (GO:0004525), protein binding (GO:0005515)

GO Cellular Component (10): nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), plasma membrane (GO:0005886), nuclear body (GO:0016604), mitochondrial matrix (GO:0005759), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mitochondrial translation	4
Translation	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
intracellular membrane-bounded organelle	2
intracellular membraneless organelle	2
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
translation	1
mitochondrial gene expression	1
translational elongation	1
mitochondrial translation	1
nucleic acid binding	1
RNA binding	1
nuclease activity	1
catalytic activity	1
catalytic activity, acting on a nucleic acid	1
RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism	1
double-stranded RNA-specific ribonuclease activity	1
binding	1
nuclear lumen	1
cellular anatomical structure	1
cytoplasm	1
organelle inner membrane	1
mitochondrial membrane	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
membrane	1
cell periphery	1
nucleoplasm	1
intracellular organelle lumen	1
protein-containing complex	1

Protein interactions and networks

STRING

3948 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPL44	MRPS14	O60783	687
MRPL44	MRPL11	Q9Y3B7	681
MRPL44	MRPL12	P52815	677
MRPL44	MRPS10	P82664	674
MRPL44	MRPS16	Q9Y3D3	668
MRPL44	MRPS25	P82663	641
MRPL44	MRPS22	P82650	599
MRPL44	MRPS27	Q92552	591
MRPL44	MRPS34	P82930	581
MRPL44	MRPL46	Q9H2W6	573
MRPL44	MRPS18B	Q9Y676	543
MRPL44	TSFM	P43897	525
MRPL44	MRPL24	Q96A35	518
MRPL44	MRPS7	Q9Y2R9	512
MRPL44	TRMT10C	Q7L0Y3	508

IntAct

185 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
GBA2	ILVBL	psi-mi:“MI:0914”(association)	0.640
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
ABI2	MRPL44	psi-mi:“MI:0915”(physical association)	0.560
MRPL44	ABI2	psi-mi:“MI:0915”(physical association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
IMMT	MRPL44	psi-mi:“MI:0915”(physical association)	0.550
SETDB1	MRPL44	psi-mi:“MI:0915”(physical association)	0.550
MRPL44	VIM	psi-mi:“MI:0915”(physical association)	0.550
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL10	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPL42	GATC	psi-mi:“MI:0914”(association)	0.530
MRPL28	MRPL3	psi-mi:“MI:0914”(association)	0.530
MRPL41	MRPL3	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
CASQ2	PES1	psi-mi:“MI:0914”(association)	0.530
TNFRSF13B	TNFRSF10B	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL27	MRPL33	psi-mi:“MI:0914”(association)	0.530

BioGRID (296): MRPL44 (Two-hybrid), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL44 (Affinity Capture-MS)

ESM2 similar proteins: A9UMP7, B0BM20, B0S6U7, D6WIX5, O95801, P19686, P19687, P34384, P42704, P57075, Q02108, Q0IHP3, Q13057, Q14C51, Q2KI62, Q2KIS2, Q32LU7, Q32N55, Q3U2U7, Q3V3E1, Q4G069, Q4ZHS0, Q5EA11, Q5M9G9, Q5R8E4, Q5RBU2, Q5REY8, Q5SGE0, Q66K14, Q6DJ55, Q6PA48, Q6PB66, Q80Y81, Q8BYI6, Q8CGS5, Q8HY87, Q8N159, Q8R4H7, Q91YM4, Q96DB5

Diamond homologs: Q2KIS2, Q5REY8, Q9CY73, Q9H9J2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPL44	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 155 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial ribosome-associated quality control	38	39.5×	3e-50
Mitochondrial translation initiation	35	37.6×	1e-45
Mitochondrial translation elongation	35	37.6×	1e-45
Mitochondrial translation	32	37.3×	2e-41
Mitochondrial translation termination	35	32.6×	5e-43
Translation	34	17.9×	6e-32
Peptide chain elongation	7	7.5×	2e-03
Viral mRNA Translation	7	7.5×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	37	46.2×	2e-50
mitochondrial large ribosomal subunit assembly	5	35.7×	6e-05
translation	26	19.2×	1e-23
cytoplasmic translation	7	9.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	75
Likely benign	47
Benign	13

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1251973	NM_022915.5(MRPL44):c.481_484delinsTC (p.Thr161fs)	Pathogenic
638416	NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)	Pathogenic
1697344	NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)	Likely pathogenic
4845766	NM_022915.5(MRPL44):c.626del (p.Glu209fs)	Likely pathogenic

SpliceAI

638 predictions. Top by Δscore:

Variant	Effect	Δscore
2:223960001:GG:G	donor_gain	1.0000
2:223960002:GG:G	donor_gain	1.0000
2:223963749:T:G	acceptor_gain	1.0000
2:223963751:T:G	acceptor_gain	1.0000
2:223963751:TGCAG:T	acceptor_loss	1.0000
2:223963752:GCAG:G	acceptor_loss	1.0000
2:223963753:CAG:C	acceptor_loss	1.0000
2:223963754:A:AG	acceptor_gain	1.0000
2:223963754:A:T	acceptor_loss	1.0000
2:223963755:G:GG	acceptor_gain	1.0000
2:223963851:G:GT	donor_gain	1.0000
2:223963852:A:T	donor_gain	1.0000
2:223963884:G:GT	donor_gain	1.0000
2:223963893:T:TA	donor_gain	1.0000
2:223963894:G:GA	donor_gain	1.0000
2:223963935:G:GG	donor_gain	1.0000
2:223966859:CTAG:C	acceptor_loss	1.0000
2:223966860:TA:T	acceptor_loss	1.0000
2:223966861:A:AG	acceptor_gain	1.0000
2:223966861:A:G	acceptor_loss	1.0000
2:223966861:AGT:A	acceptor_gain	1.0000
2:223966862:G:GG	acceptor_gain	1.0000
2:223966862:GT:G	acceptor_gain	1.0000
2:223966862:GTG:G	acceptor_gain	1.0000
2:223966862:GTGA:G	acceptor_gain	1.0000
2:223966862:GTGAT:G	acceptor_gain	1.0000
2:223957668:G:GT	donor_gain	0.9900
2:223957668:G:T	donor_gain	0.9900
2:223957745:GGT:G	donor_gain	0.9900
2:223957758:G:GT	donor_gain	0.9900

AlphaMissense

2145 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:223966921:G:C	A296P	0.992
2:223959626:C:A	A91E	0.990
2:223959944:C:A	A197E	0.989
2:223959863:C:A	A170D	0.987
2:223959862:G:C	A170P	0.986
2:223966924:G:C	A297P	0.985
2:223966879:G:C	A282P	0.982
2:223959550:T:A	W66R	0.980
2:223959550:T:C	W66R	0.980
2:223963922:T:A	V272D	0.979
2:223966922:C:A	A296D	0.979
2:223966933:G:C	A300P	0.979
2:223959739:G:T	G129W	0.978
2:223966925:C:A	A297D	0.977
2:223959587:G:C	R78P	0.976
2:223959739:G:A	G129R	0.976
2:223959739:G:C	G129R	0.976
2:223959959:T:C	L202P	0.976
2:223959574:G:C	A74P	0.975
2:223959625:G:C	A91P	0.975
2:223966910:C:A	A292E	0.975
2:223966934:C:A	A300D	0.974
2:223959552:G:C	W66C	0.973
2:223959552:G:T	W66C	0.973
2:223963829:T:C	L241S	0.973
2:223966937:T:C	L301P	0.973
2:223959943:G:C	A197P	0.972
2:223959995:T:C	F214S	0.972
2:223959740:G:A	G129E	0.970
2:223959567:A:C	E71D	0.969

dbSNP variants (sampled 300 via entrez): RS1000014330 (2:223953082 T>G), RS1000215454 (2:223949708 A>G), RS1000343270 (2:223957300 A>C,T), RS1000607228 (2:223963636 A>C), RS1000625979 (2:223957902 G>C), RS1000650829 (2:223950043 C>A), RS1000658669 (2:223957039 G>C), RS1000730297 (2:223957251 G>T), RS1000931342 (2:223958184 A>G), RS1001083281 (2:223964045 C>T), RS1001362199 (2:223961008 T>A), RS1001367901 (2:223967714 A>G,T), RS1001388192 (2:223968007 T>C), RS1001722532 (2:223949261 G>A,T), RS1002106742 (2:223963310 G>A)

Disease associations

OMIM: gene MIM:611849 | disease phenotypes: MIM:615395, MIM:220110, MIM:609060

GenCC curated gene-disease

Disease	Classification	Inheritance
infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (3): infantile hypertrophic cardiomyopathy due to MRPL44 deficiency (MONDO:0014162), mitochondrial complex IV deficiency, nuclear type 1 (MONDO:0700250), hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (MONDO:0012191)

Orphanet (2): Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency (Orphanet:352563), Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (Orphanet:137681)

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001414	Microvesicular hepatic steatosis
HP:0001522	Death in infancy
HP:0001639	Hypertrophic cardiomyopathy
HP:0002151	Increased circulating lactate concentration
HP:0003593	Infantile onset
HP:0003688	Cytochrome C oxidase-negative muscle fibers
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563797	Combined Oxidative Phosphorylation Deficiency 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
bisphenol F	increases expression	1
arsenite	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
LDN 193189	decreases expression, affects cotreatment	1
bisphenol AF	increases expression	1
Temozolomide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cannabidiol	increases expression	1
Coal	decreases expression, increases abundance	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Ribonucleotides	affects binding	1
Rotenone	decreases expression	1
Selenium	affects cotreatment, decreases expression	1
Smoke	decreases expression, increases abundance	1
Valproic Acid	decreases methylation	1
Vitamin E	affects cotreatment, decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1
Lactic Acid	affects expression	1

Clinical trials (associated diseases)

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