RAB34 Chromosome 17
RAB34, member RAS oncogene family
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What This Gene Does
This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
RAB, member RAS oncogene GTPases
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000109113
Associated Conditions (2)
Jeune thoracic dystrophy
Orofaciodigital syndrome 20
Key Variants
RS750408092
Likely pathogenic
Jeune thoracic dystrophy, Orofaciodigital syndrome 20, Jeune thoracic dystrophy
Health Risk
RS757465924
Likely pathogenic
Jeune thoracic dystrophy, Orofaciodigital syndrome 20, Jeune thoracic dystrophy
Health Risk
RS2544303152
Pathogenic
Orofaciodigital syndrome 20, Orofaciodigital syndrome 20
Health Risk
RS910197266
Pathogenic
Orofaciodigital syndrome 20, Orofaciodigital syndrome 20
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750408092 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Orofaciodigital syndrome 20, Jeune thoracic dystrophy |
| RS757465924 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Orofaciodigital syndrome 20, Jeune thoracic dystrophy |
| RS2544303152 | Health Risk | Pathogenic | Orofaciodigital syndrome 20, Orofaciodigital syndrome 20 |
| RS910197266 | Health Risk | Pathogenic | Orofaciodigital syndrome 20, Orofaciodigital syndrome 20 |