Gene data
CTSD- Name
- cathepsin D
- Type
- protein-coding
- Aliases
- CLN10, CPSD, HEL-S-130P
This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015].
via MyGene.info
Gene · Ensembl
cathepsin D
- Symbol
- CTSD
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:1,752,752-1,764,573
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein CTSD PDB 1lya.png
Show 8 more facts
- HomoloGene ID
- 55616
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1509
- genomic start
- 1752752
- genomic end
- 1764573
- cytogenetic location
- 11p15.5
- chromosome
- human chromosome 11
- genetic association
- neuronal ceroid lipofuscinosis
Sources (7)
via Wikidata · CC0
Article · 中文
组织蛋白酶D是一种在人体中由CTSD基因编码的蛋白质。该基因编码一种溶酶体天冬氨酰蛋白酶，该蛋白酶由二硫键连接的重链和轻链的蛋白二聚体组成，两者均由单一蛋白质前体产生。组织蛋白酶D是一种天冬氨酸内切蛋白酶，广泛分布于溶酶体中。组织蛋白酶D的主要功能是降解蛋白质并激活溶酶体前区室中生物活性蛋白的前体。这种蛋白酶是肽酶A1家族的成员，具有与胃蛋白酶A相似但比胃蛋白酶A更窄的特异性。 CTSD基因的转录从几个位点开始，包括一个作为雌激素调节转录物起始位点的位点。该基因的突变与几种疾病的发病机制有关，包括乳腺癌和可能的阿尔茨海默病症。CTSD基因的纯合缺失导致出生后阶段的早期致死性。据报道，CTSD基因的缺陷是（NCL）的根本原因。
Abstract from DBpedia / Wikipedia · CC BY-SA