SPTSSB - serine palmitoyltransferase small subunit B Gene

Homo sapiens

Also known as ADMP; SSSPTB; C3orf57

Gene ID: 165679 | Gene type: protein coding

About SPTSSB

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:161,344,798-161,371,517 (from NCBI)

This gene has 4 transcripts (splice variants), 189 orthologues and 1 paralogue. Biased expression in stomach (RPKM 17.1), skin (RPKM 13.9) and 5 other tissues.

Summary

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

SPTSSB Products(2)

mRNA	Protein	Name
NM_001040100.2	NP_001035189.1	serine palmitoyltransferase small subunit B
NM_001320679.2	NP_001307608.1	serine palmitoyltransferase small subunit B

SPTSSB Protein Structure

SPT_ssu-like

0
76 a.a.

Protein Preferred Names

Protein Names

serine palmitoyltransferase small subunit B

androgen down regulated in mouse prostate

Related Diseases

Diseases

Alias

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Neuropathy, Hereditary Sensory And Autonomic, Type Ia

HSAN1A	Hsan Ia
Hsan1	Hsn Ia
Hereditary Sensory And Autonomic Neuropathy Type 1a	Neuropathy, Hereditary Sensory And Autonomic, Type 1a
Neuropathy, Hereditary Sensory, Type Ia	Hsn1a
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a	Hereditary Sensory And Autonomic Neuropathy Type Ia
Neuropathy, Hereditary Sensory And Autonomic, 1a	Hereditary Sensory Neuropathy Type Ia
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a	Hsn1
Neuropathy, Sensory And Autonomic, Hereditary, Type 1a	Hereditary Sensory Autonomic Neuropathy, Type 1

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth 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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13740	SPTSSB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPTSSB	MGD	MGI:1913433
Felis catus	SPTSSB	VGNC	VGNC:65666
Bos taurus	SPTSSB	VGNC	VGNC:35260
Canis familiaris	SPTSSB	VGNC	VGNC:46782
Rattus norvegicus	SPTSSB	RGD	RGD:2324614

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