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

CSAD - cysteine sulfinic acid decarboxylase Gene

Homo sapiens

Also known as CSD; PCAP

Gene ID: 51380 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Pyridoxal_deC

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

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  • 493 a.a.
Protein Preferred Names Protein Names

cysteine sulfinic acid decarboxylase

P-selectin cytoplasmic tail-associated protein

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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