1. Gene
  2. CSAD - cysteine sulfinic acid decarboxylase Gene

CSAD - cysteine sulfinic acid decarboxylase Gene

中文名称:半胱氨酸亚磺酸脱羧酶

种属: Homo sapiens

同用名: CSD; PCAP

基因 ID: 51380 | 基因类型: protein coding

关于 CSAD

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,157,663-53,181,351 (from NCBI)

This gene has 19 transcripts (splice variants), 201 orthologues and 7 paralogues. Ubiquitous expression in fat (RPKM 9.9), skin (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码第 2 组脱羧酶家族的成员。啮齿动物中的一种类似蛋白质在多种生物过程中发挥作用,作为牛磺酸生物合成中的限速酶,催化半胱氨酸亚磺酸盐脱羧为亚牛磺酸。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 9 月]

This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting Enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

CSAD 基因产物(3)

mRNA Protein Name
NM_001244705.2 NP_001231634.1 cysteine sulfinic acid decarboxylase isoform 2
NM_001244706.2 NP_001231635.1 cysteine sulfinic acid decarboxylase isoform 3
NM_015989.5 NP_057073.4 cysteine sulfinic acid decarboxylase isoform 1

CSAD 蛋白结构

Pyridoxal_deC

Pyridoxal_deC: Pyridoxal-dependent decarboxylase conserved domain (49 - 416)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 493 a.a.
蛋白主名 其他名称

cysteine sulfinic acid decarboxylase

P-selectin cytoplasmic tail-associated protein

关联疾病

疾病名称 别名
Stiff-Person Syndrome

SPS

Stiff-Man Syndrome

Stiff Man Syndrome

Stiff Person Syndrome

Moersch-Woltman Syndrome

Sms

Stiff-Trunk Syndrome

Morsch Woltman Syndrome

Stiff Person Syndrome And Related Disorders

Stiff Person Spectrum Disorder

Classic Stiff Person Syndrome

Classic Sps

Focal Stiff Limb Syndrome

Focal Stiff-Person Syndrome

Stiff Leg Syndrome

Progressive Encephalomyelitis With Rigidity

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CSAD VGNC VGNC:39649
Felis catus CSAD VGNC VGNC:61212
Bos taurus CSAD VGNC VGNC:27749
Mus musculus CSAD MGD MGI:2180098
Macaca mulatta CSAD VGNC VGNC:71439
Rattus norvegicus CSAD RGD RGD:621030
Others CSAD NCBI