ERCC6L2

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

Description

ERCC excision repair 6 like 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

9 (95871264 - 96121154)

Ensembl ID

ENSG00000182150  (ver. 103.38)

Orthologs

-

UniProt

Q5T890

neXtProt

NX_Q5T890

Human splice variants

Protein structure