Ras-Associated Protein RAB33B

Alternative Names

  • RAB33B

Associated Diseases

Smith-Mccort Dysplasia 2
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OMIM Number

605950

NCBI Gene ID

83452

Uniprot ID

Q9H082

Length

23,378 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Ras-related protein Rab-33B

Molecular Mass

25718 Da

Amino Acid Count

229

Genomic Location

chr4:139,453,231-139,476,608

Gene Map Locus
4q31.1

Description

This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_031296.3:c.136A>CSaudi ArabiaNC_000004.12:g.139454331A>CPathogenicLikely PathogenicSmith-Mccort Dysplasia 2NG_051587.1:g.6100A>C; NM_031296.3:c.136A>C; NP_112586.1:p.Lys46Gln58777695850230
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