RAB5IF Chromosome 20
RAB5 interacting factor
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What This Gene Does
Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane. Located in mitochondrion. Part of multi-pass translocon complex. Implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
GEL complex subunits
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000101084
Associated Conditions (5)
10 conditions
Craniofacial dysmorphism
skeletal anomalies
and impaired intellectual development syndrome 2
and impaired intellectual development 1
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1464308137 | Health Risk | Pathogenic/Likely pathogenic | 10 conditions, Craniofacial dysmorphism, skeletal anomalies |