RABAC1
Description
The RABAC1 (Rab acceptor 1) is a protein-coding gene located on chromosome 19.
RABAC1 is a gene encoding Prenylated Rab acceptor 1 (PRA1), also known as PRAF1 or RABAC1, which is highly conserved in eukaryotes. The protein is located in the Golgi and late endosomes and plays a role in vesicular trafficking, lipid transport, and cell migration. RABAC1 interacts with numerous prenylated members of the Rab GTPase family and VAMP2.
RABAC1 is a general Rab protein regulator involved in vesicle formation from the Golgi apparatus. It may regulate vesicle docking and fusion by mediating the interaction of Rab GTPases with SNARE complexes. Additionally, it inhibits the removal of Rab GTPases from the membrane by GDI.
RABAC1 is also known as PRA1, PRAF1, YIP3.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- cataract
- hereditary hyperferritinemia with congenital cataracts
- cataract 13 with adult I phenotype
- cataract 38
- granular corneal dystrophy type I
- cataract 12 multiple types
- cataract 5 multiple types
- congenital cataract-ichthyosis syndrome
- congenital glaucoma
- juvenile cataract-microcornea-renal glucosuria syndrome
