EMC1 gene

ER membrane protein complex subunit 1

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

From NCBI Gene:

This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]

From NCBI Gene:

  • Cerebellar atrophy, visual impairment, and psychomotor retardation

From UniProt:

Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR): An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. [MIM:616875]

Cytogenetic Location: 1p36.13, which is the short (p) arm of chromosome 1 at position 36.13

Molecular Location: base pairs 19,215,664 to 19,251,559 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.13, which is the short (p) arm of chromosome 1 at position 36.13
  • CAVIPMR
  • KIAA0090