QuickView for ECM1 (gene)

Gene Symbol:

ECM1 Homo sapiens

Full name:

extracellular matrix protein 1

Synonyms:

URBWD, extracellular matrix protein 1, secretory component p85, testicular tissue protein Li 61

Genomic Location:

Chr 1: 148747207-148752660

Description:

This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyal...

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This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGANTCA_AP1_C ,  RYTTCCTG_ETS2_B ,  ATF4_Q2 ,  AP1_Q6 ,  TATAAA_TATA_01 ,  BACH1_01 ,  AP1_Q4_01

Cytogenetic Map:

1q21.2

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