EXPH5 gene

exophilin 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

From UniProt:

May act as Rab effector protein and play a role in vesicle trafficking.

From NCBI Gene:

  • Epidermolysis bullosa, nonspecific, autosomal recessive

From UniProt:

Epidermolysis bullosa, non-specific, autosomal recessive (EBNS): 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. [MIM:615028]

Cytogenetic Location: 11q22.3, which is the long (q) arm of chromosome 11 at position 22.3

Molecular Location: base pairs 108,505,431 to 108,607,514 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q22.3, which is the long (q) arm of chromosome 11 at position 22.3
  • SLAC2-B
  • SLAC2B