TIMM17A

protein-coding

translocase of inner mitochondrial membrane 17A, the group of TIM23 complex|Tim17 family

Gene summary

Predicted to contribute to transmembrane protein transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrial inner membrane. Part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_006335.3

Inheritance

—

ClinVar variants

U:28

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chr1:201,955,503-201,970,664

External References & Databases

Ensembl (ENSG00000134375)

Transcript & Mutation Effects

hg38 • Region Span ~15.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TIMM17A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 21

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006335.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			25 clinvar			25
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	28	0	0	28

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006335.3	RefSeq	NP_006326.1	6	MANE Select
ENST00000367287.5	Ensembl	ENSP00000356256.4	6	MANE Select
ENST00000880520.1	Ensembl	ENSP00000550579.1	5	Standard
ENST00000880520.2	Ensembl	ENSP00000550579.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of proteins
Mitochondrial protein import

Biological Process

protein targeting to mitochondrion
positive regulation of protein processing
protein import into mitochondrial matrix

Molecular Function

protein transmembrane transporter activity
P-P-bond-hydrolysis-driven protein transmembrane transporter activity

Cellular Component

nucleoplasm
mitochondrion
mitochondrial inner membrane
TIM23 mitochondrial import inner membrane translocase complex
integral component of mitochondrial inner membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367287
Coding exons: 6
Length: 15171
Individuals with no LoFs: 125743
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125747
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.487	82	95.4	0.860	0.00000471	1087
Missense (PolyPhen)		40	48.9	0.818		552
Synonymous	0.135	31	32.0	0.970	0.00000154	349
Loss of Function	2.30	3	11.4	0.264	6.66e-7	111

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.;

Recessive Scores

pRec: 0.129

Intolerance Scores

LoFtool: 0.474
RVIS EVS: 0.08
RVIS percentile EVS: 59.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0755

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium