Entity Details

Primary name CYTM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15828
EntryNameCYTM_HUMAN
FullNameCystatin-M
TaxID9606
Evidenceevidence at protein level
Length149
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesCST6

GO terms

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GOName
GO:0001533 cornified envelope
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0008544 epidermis development
GO:0009653 anatomical structure morphogenesis
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000010 Cystatin domainDomainDomain
IPR018073 Proteinase inhibitor I25, cystatin, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
618535 OMIMEctodermal dysplasia 15, hypohidrotic/hair type (ECTD15)A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia. The disease may be caused by variants affecting the gene represented in this entry.