1. Gene
  2. CMAS - cytidine monophosphate N-acetylneuraminic acid synthetase Gene

CMAS - cytidine monophosphate N-acetylneuraminic acid synthetase Gene

Homo sapiens

Also known as CSS

Gene ID: 55907 | Gene type: protein coding

About CMAS

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:22,046,218-22,065,668 (from NCBI)

This gene has 5 transcripts (splice variants) and 249 orthologues. Ubiquitous expression in testis (RPKM 46.2), colon (RPKM 38.5) and 25 other tissues.

Summary

This gene encodes an Enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

CMAS Products(1)

mRNA Protein Name
NM_018686.6 NP_061156.1 N-acylneuraminate cytidylyltransferase

CMAS Protein Structure

CTP_transf_3

CTP_transf_3: Cytidylyltransferase (46 - 276)

  • 0
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  • 400
  • 434 a.a.
Protein Preferred Names Protein Names

N-acylneuraminate cytidylyltransferase

CMP-N-acetylneuraminic acid synthase

Related Diseases

Diseases Alias
Palmoplantar Keratoderma And Congenital Alopecia 2

Cataract-Alopecia-Sclerodactyly Syndrome

Cass

Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia

PPKCA2

Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia

Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type

Ppk-Ca, Wallis Type

Cataract, Alopecia, Sclerodactyly

Ppkca, Wallis Type

Ppkca Wallis Type

Cataract, Alopecia, Sclerodactyly Syndrome

Coffin-Siris Syndrome 2

CSS2

Mrd14

Mental Retardation, Autosomal Dominant 14

Autosomal Dominant Mental Retardation 14

Coffin-Siris Syndrome, Type 2

Coffin-Siris Syndrome 4

CSS4

Mrd16

Mental Retardation, Autosomal Dominant 16

Autosomal Dominant Mental Retardation 16

Coffin-Siris Syndrome, Type 4

Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome

Spiegler-Brooke Syndrome

Familial Cylindromatosis

BRSS

Bss

Sbs

Multiple Familial Trichoepithelioma

Ancell-Spiegler Cylindromas

Familial Multiple Trichoepithelioma

Trichoepithelioma

Fc

Mft

Multiple Familial Trichoepitheliomas

Ccs

Turban Tumor Syndrome

Schilbach-Rott Syndrome

Eccrine Dermal Cylindroma

Familial Multiple Trichoepitheliomata

Parotid Disease

Parotid Diseases

Siderosis

Pulmonary Siderosis

Deposition Of Iron

Arc-Welders' Disease

Arc-Welders' Lung

Arc-Welders' Nodulation

Arc-Welders' Pneumoconiosis

Iron Oxide Lung

Iron Pneumoconiosis

Pneumoconiosis Siderotico

Siderotic Lung Disease

Steel Grinders' Disease

Welders' Lung

Welders' Siderosis

Lung Fibrosis With Siderosis

Hemosiderosis

Haemosiderosis

Iron Overload

Parotitis
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
Felis catus CMAS VGNC VGNC:60993
Rattus norvegicus CMAS RGD RGD:1310911
Mus musculus CMAS MGD MGI:1337124
Macaca mulatta CMAS VGNC VGNC:71201
Canis familiaris CMAS VGNC VGNC:39375
Bos taurus CMAS VGNC VGNC:27476