SPTSSA - serine palmitoyltransferase small subunit A Gene

Homo sapiens

Also known as SSSPTA; C14orf147

Gene ID: 171546 | Gene type: protein coding

About SPTSSA

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:34,432,788-34,462,240 (from NCBI)

This gene has 1 transcript (splice variant), 160 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 46.3), colon (RPKM 28.8) and 23 other tissues.

Summary

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA 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]

SPTSSA Products(1)

mRNA	Protein	Name
NM_138288.4	NP_612145.2	serine palmitoyltransferase small subunit A

SPTSSA Protein Structure

SPT_ssu-like

0
71 a.a.

Protein Preferred Names

Protein Names

serine palmitoyltransferase small subunit A

small subunit of serine palmitoyltransferase A

Related Diseases

Diseases

Alias

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

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]

Alveoli Adenoma

Alveolar Adenoma	Adenoma Of Alveoli
Adenoma Of The Alveoli

Endometrial Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Endometrium	Adenosquamous Carcinoma Of The Endometrium
Endometrial Adenosquamous Cancer	Endometrial Adenosquamous Cell Carcinoma

Bronchial Benign Neoplasm

Bronchus Neoplasm	Neoplasm Of Bronchus
Bronchial Neoplasms	Bronchial Neoplasm

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-RS13739	SPTSSA Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SPTSSA	RGD	RGD:1565821
Bos taurus	SPTSSA	VGNC	VGNC:35259
Mus musculus	SPTSSA	MGD	MGI:1913399

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