Ras-Associated Protein RAB27A

Alternative Names

  • RAB27A
  • RAB27
  • RAS-Related Gene From Megakaryocyte
  • RAM
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OMIM Number

603868

NCBI Gene ID

5873

Uniprot ID

P51159

Length

88,373 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Ras-related protein Rab-27A

Molecular Mass

24868 Da

Amino Acid Count

221

Genomic Location

chr15:55,202,965-55,291,337

Gene Map Locus
15q21.3

Description

The Rab27A gene encodes a protein that belongs to small GTPase superfamily known as Ras-related protein Rab-27A. The encoded protein is membrane-bound and is involved in protein transport. The role of this protein seems critical in pigment-producing cells called melanocytes and in certain immune system cells. Mutations in Rab27A cause Griscelli syndrome type 2. Alternative splicing is known to occur at this locus and four transcript variants have been identified.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004580.5:c.17A>GLebanonNC_000015.10:g.55234918T>CUncertain SignificanceUncertain SignificanceNG_009103.1:g.59886A>G; NM_004580.5:c.17A>G; NP_899059.1:p.Tyr6Cys145253993536463

Other Reports

Palestine

Information to be added soon. 

Saudi Arabia

Al-Ahmari et al., (2010) reviewed 11 patients with GS who received allogeneic hematopoietic stem cell transplant (aHSCT) between 1993 and 2007. The median age at transplantation was 8.2 months. Seven patients treated with chemotherapy before transplantation because they reached accelerated phase. Two sources of grafts were available; matched-related marrows in 8 patients and mismatched unrelated cords in the remaining three. The median time for engraftment in all subjects was fifteen days. Ten patients were alive at a median age of 4.8 years after transplantation. One patient died of septic shock 6 months after transplantation. The authors concluded that early aHSCT is feasible for treating patients with Griscelli syndrome and low level of donor cell engraftment is sufficient to prevent the recurrence of the disease. 

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