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GeneQ22011892· pop 5· linked from 33 articles

WASHC5

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Also known as RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5

KIAA0196 (also known as strumpellin) is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.

Gene data

WASHC5
Name
WASH complex subunit 5
Type
protein-coding
Position
125,024,260–125,091,819 (−)
Aliases
KIAA0196, RTSC, RTSC1, SPG8
Ensembl
ENSG00000164961
RefSeq RNA
NM_001330609.2, NM_014846.4, XM_011517409.2, XM_047422502.1, XM_047422503.1
RefSeq protein
NP_001317538.1, NP_055661.3, XP_011515711.1, XP_047278458.1, XP_047278459.1

This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009].

Gene Ontology

Molecular function

protein binding

Pathways

Endocytosis - Homo sapiens (human)

via MyGene.info

Gene · Ensembl

WASH complex subunit 5

Symbol
WASHC5
Biotype
Protein coding
Organism
Homo sapiens
Location
8:125,024,260-125,091,819
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Show 8 more facts
HomoloGene ID
8898
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/9897
genomic end
125091819
genomic start
126036502
chromosome
human chromosome 8
expressed in
spinal ganglia
cytogenetic location
8q24.13
Sources (5)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections
Contents
  • References
  • External links
  • Further reading

KIAA0196 (also known as strumpellin) is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.

==References==

Excerpted from Wikipedia’s “WASHC5” article, available under the CC BY-SA 4.0 licence.

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