Ras-Associated Protein RAB23

Alternative Names

  • RAB23

Associated Diseases

Carpenter Syndrome 1
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OMIM Number

606144

NCBI Gene ID

51715

Uniprot ID

Q9ULC3

Length

35,323 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Ras-Related Protein Rab-23

Molecular Mass

26659 Da

Amino Acid Count

237

Genomic Location

chr6:57,186,992-57,222,314

Gene Map Locus
6p11.2

Description

The RAB23 gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in regulating many cellular processes in the context of endocytosis, including autophagy and immune response to bacterial infections. Rab23 gets attached to nascent endocytic vesicles and it guides them to their proper cellular destination. This function implies a significant role for Rab23 in regulating many signaling pathways and a considerable influence of this protein on cell-cell communication. In fact, molecular investigations indicate that Rab23 particularly regulates a key developmental pathway; hedgehog signaling. The latter is highly important for many developmental processes, such as cellular proliferation and patterning during embryonic development. Importantly, Rab23 is thought to play a significant role in the development of the central nervous system through antagonizing sonic hedgehog signaling.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016277.4:c.482-1G>AUnited Arab EmiratesNC_000006.12:g.57193935C>TLikely PathogenicCarpenter Syndrome 1NG_012170.1:g.33346G>A; NM_016277.4:c.482-1G>A; NP_057361.3:p.?
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