SDR9C7 gene

short chain dehydrogenase/reductase family 9C member 7

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

From NCBI Gene:

This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]

From UniProt:

Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity.

From NCBI Gene:

  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13

From UniProt:

Ichthyosis, congenital, autosomal recessive 13 (ARCI13): A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. [MIM:617574]

Cytogenetic Location: 12q13.3, which is the long (q) arm of chromosome 12 at position 13.3

Molecular Location: base pairs 56,923,154 to 56,934,405 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.3, which is the long (q) arm of chromosome 12 at position 13.3
  • ARCI13
  • RDHS
  • SDR-O
  • SDRO