May act as Rab effector protein and play a role in vesicle trafficking.
Function:
May act as Rab effector protein and play a role in vesicle trafficking.
Subunit:
Interacts with RAB27A (By similarity).
Tissue Specificity:
Expressed in keratinocytes.
DISEASE:
Epidermolysis bullosa, non-specific, autosomal recessive (EBNS) [MIM:615028]: A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma-induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 1 RabBD (Rab-binding) domain.
SWISS:
Q9C0E2
Gene ID:
23086
Database links:
Entrez Gene: 23086 Human
Omim: 612878 Human
SwissProt: Q9C0E2 Human
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