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MASP1 Gene

MBL associated serine protease 1

ALIAS SYMBOLS

  • MASP

  • Map44

  • MASP-3

  • MAP-1

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Description

The MASP1 gene provides instructions for making proteins that are involved in a series of steps called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during development before birth to form the organs and systems of the body. It appears to be particularly important in directing the migration of neural crest cells. These cells give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system. After birth, the lectin complement pathway is involved in the immune system.

Proteins called MASP-1, MASP-3, and MAp44 can be produced from the MASP1 gene, depending on how the gene's instructions are pieced together. These proteins differ at one end of their structure. The MASP-1 and MASP-3 proteins have different versions of regions called serine protease domains, while the MAp44 protein has no serine protease domain. Researchers are studying whether these proteins play different roles in the lectin complement pathway.

CHROMOSOME

3

LOCATION

q27.3

LOCUS TYPE

gene with protein product

VARIANTS

169

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Phenotypes

3MC syndrome 1

3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.

The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate).

Other common features of 3MC syndrome include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Less often, individuals with 3MC syndrome can have abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals.

3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.

External Links

  • HGNC

    HGNC:6901

  • Ensembl

    ENSG00000127241

  • NCBI

    5648

  • OMIM

    600521

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