SDR9C7
entrez
121214
canonical
uniprot
Q8NEX9
canonical
ensembl
ENSG00000170426
resolver
ensp
ENSP00000293502
resolver
enst
ENST00000293502
resolver
genesymbol
SDR9C7
resolver
genesymbol_syn
RDHS
resolver
genesymbol_syn
SDRO
resolver
hgnc
HGNC:29958
resolver
uniprot
B3KVB4
resolver
uniprot_entry
DR9C7_HUMAN
resolver
uniprot_sec
B3KVB4
resolver
amino_acid_sequence
MAALTDLSFMYRWFKNCNLVGNLSEKYVFITGCDSGFGNLLAKQLVDRGMQVLAACFTEEGSQKLQRDTSYRLQTTLLDVTKSESIKAAAQWVRDKVGEQGLWALVNNAGVGLPSGPNEWLTKDDFVKVINVNLVGLIEVTLHMLPMVKRARGRVVNMSSSGGRVAVIGGGYCVSKFGVEAFSDSIRRELYYFGVKVCIIEPGNYRTAILGKENLESRMRKLWERLPQETRDSYGEDYFRIYTDKLKNIMQVAEPRVRDVINSMEHAIVSRSPRIRYNPGLDAKLLYIPLAKLPTPVTDFILSRYLPRPADSV
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis, congenital, autosomal recessive 13 (ARCI13) [MIM:617574]: 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. {ECO:0000269|PubMed:28173123}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.-
uniprot
proteins
function
FUNCTION: Plays a crucial role in the formation of the epidermal permeability barrier (PubMed:31671075). Catalyzes the NAD+-dependent dehydrogenation of the linoleate 9,10-trans-epoxy-11E-13-alcohol esterified in omega-O-acylceramides (such as in N-[omega-(9R,10R)-epoxy-(13R)-hydroxy-(11E)-octadecenoyloxy]-acylsphing-4E-enine) to the corresponding 13-ketone, the reactive moiety required for binding of epidermal ceramides to proteins (PubMed:31671075). Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity (PubMed:19703561). {ECO:0000269|PubMed:19703561, ECO:0000269|PubMed:31671075}.
uniprot
proteins
mass_dalton
35263
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
12234675
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19027726
uniprot
proteins
pubmed
19703561
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28173123
uniprot
proteins
pubmed
31671075
uniprot
proteins
sequence_length
313
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19703561}. Note=Granular distribution in the whole cell.
uniprot
proteins